When was mermaid syndrome discovered




















WW was involved in the summary of the case as well as obtaining the accompanying images. All authors read and approved the final manuscript. This article is published under license to BioMed Central Ltd. Reprints and Permissions. Ugwu, R. Sirenomelia in a Nigerian triplet: a case report. J Med Case Reports 5, Download citation. Received : 13 April Accepted : 02 September Published : 02 September Anyone you share the following link with will be able to read this content:. Sorry, a shareable link is not currently available for this article.

Provided by the Springer Nature SharedIt content-sharing initiative. Skip to main content. Search all BMC articles Search. Download PDF. Abstract Introduction Sirenomelia, also known as mermaid syndrome, is a very rare fatal congenital abnormality in which the legs are fused together, giving them the appearance of a mermaid's tail. Case presentation A hour-old baby boy, the second of a set of Nigerian triplets, presented to our facility with fusion of the entire lower limbs, imperforate anus, indiscernible genital structures, single umbilical artery and a neural tube defect.

Conclusion Sirenomelia has not been previously described in a set of triplets, and it is hoped that this report from West Africa will give information about the non-racial predilection of this condition. Introduction Sirenomelia is a very rare congenital abnormality in which the legs are fused together, giving them the appearance of a mermaid's tail.

Case presentation The patient, a hour-old Nigerian baby boy was brought to our children's out-patient clinic on account of fusion of the two legs from birth. Figure 1. Full size image. Figure 2. Discussion The cause of sirenomelia remains unclear, however, maternal diabetes mellitus [ 3 , 11 , 12 ], genetic predisposition, environmental factors and vascular steal phenomenon with the single vitelline umbilical artery diverting blood supply and nutrients from the lower body and limbs [ 13 ] have been proposed as possible causative factors.

Conclusions Sirenomelia is a very rare fatal congenital abnormality. Consent Written informed consent was obtained from the patient's next-of-kin for publication of this case report and any accompanying images. Learn more. What to know about mermaid syndrome. Medically reviewed by Karen Gill, M. What it is Causes Signs and symptoms Treatment Risk factors Outlook Summary Mermaid syndrome, or sirenomelia, is an extremely rare but very serious condition that is present from birth congenital.

What is mermaid syndrome? Signs and symptoms. Treatment, care, and surgery. Risk factors. Exposure to air pollutants may amplify risk for depression in healthy individuals. Costs associated with obesity may account for 3. Related Coverage. What to know about dextrocardia Dextrocardia is a rare condition where the heart points to the left side of the body instead of the right.

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All you should know about Waardenburg syndrome. Medically reviewed by Alana Biggers, M. According to the findings of the mermaid syndrome, caudal area hemorrhagia has been identified as a major cause and other factors include gestational diabetes mellitus and fetal exposure to teratogenic substances also has been reported.

Blood glucose control in pregnant women and prevention of contact of pregnant mother with teratogenic substances is recommended. Conflict of Interest None. National Center for Biotechnology Information , U. AJP Rep. Published online Nov Author information Article notes Copyright and License information Disclaimer. Received Apr 26; Accepted Jul Copyright notice.

This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives License, which permits unrestricted reproduction and distribution, for non-commercial purposes only; and use and reproduction, but not distribution, of adapted material for non-commercial purposes only, provided the original work is properly cited.

This article has been cited by other articles in PMC. Abstract The mermaid syndrome sirenomelia is an extremely rare anomaly, an incidence of 1 in , births, in which a newborn born with legs joined together featuring a mermaid-like appearance head and trunk like humans and tail like fish , and in most cases die shortly after birth.

Keywords: mermaid syndrome, sirenomelia, single lower limb, single umbilical artery, thumb deformity. Case Report A term neonate with ambiguous genitalia and single lower limb was born to a year-old mother with a history of gestational diabetes mellitus.

Download video file. Open in a separate window. Discussion Mermaid syndrome is an extremely rare anomaly that was first reported in 1, by Rocheus et al and later by Palfyn et al in Conclusion According to the findings of the mermaid syndrome, caudal area hemorrhagia has been identified as a major cause and other factors include gestational diabetes mellitus and fetal exposure to teratogenic substances also has been reported.

Footnotes Conflict of Interest None. References 1. Five cases of caudal regression with an aberrant abdominal umbilical artery: further support for a caudal regression-sirenomelia spectrum. Am J Med Genet A. A clinical and experimental overview of sirenomelia: insight into the mechanisms of congenital limb malformations. Dis Model Mech. Sirenomelia: a rare presentation. J Neonatal Surg. Sirenomelia sequence mermaid : report of three cases. Indian J Radiol Imaging.

Sikandar R, Munim S. Sirenomelia, the mermaid syndrome: case report and a brief review of literature. J Pak Med Assoc. Sirenomelia, the mermaid syndrome--detection in the first trimester.

Prenat Diagn. Duhamel B. She was otherwise healthy with no known history of genetic or congenital anomaly in her family.

On examination, she was observed to be in the second stage of labor with cephalic presentation and regular fetal heart rate. She delivered a term 2. The baby died within 30 min postbirth in spite of resuscitation attempts by neonatologist.

On physical examination, the infant showed narrow chest, bilateral hypoplastic thumb, fused lower limbs with a single foot and 5 toes, absent external genitalia, imperforate anus and umbilical cord with single umbilical artery [ Figure 1 ]. There were also prominent epicanthal folds, hypertelorism, downward curved nose, receding chin, low-set soft dysplastic ears and small slit-like mouth suggestive of Potter's facies [ Figure 2 ].

Autopsy was declined by the parents. Intrapartum and the postpartum period of mother was uneventful. Photograph of the baby showing fusion of lower limbs, hypoplastic thumb, absent external genitalia and features of Potter's facies. Sirenomeliac baby with narrow chest and Potter's facies prominent infraorbital folds, small slit-like mouth, receding chin, downward curved nose, and low-set soft dysplastic ears.

A preterm baby weighing 1. Postpartum investigation revealed the presence of diabetes mellitus. There was no history of drug intake and radiation exposure. There was very scanty amniotic fluid drained at the time of delivery.

Examination of the fused lower limbs showed the presence of all thigh and leg bones thus classifying our patient as Type I of Stocker and Heifetz classification. The infant also had features of Potter's facies including prominent infraorbital folds, small slit-like mouth, receding chin, downward curved nose, and low-set ears.

Ultrasonography revealed bilateral renal agenesis. On autopsy, there was an absence of both kidneys, ureters, urinary bladder, seminal vesicle, and urethra.

The gastrointestinal system ended in a blind loop at the rectosigmoid area and was filled with meconium. Two pea sized gonads suggestive of testes were seen bilaterally posterior to pubis.

Right pneumothorax with collapsed right lung was evident. Examination of brain, heart, liver, adrenal glands, and pancreas revealed normal anatomy. Sirenomeliac baby with fused lower limbs containing 10 toes, Potter's facies, narrow chest, and absent external genitalia.

Anomalies observed in sirenomelia are described as the most severe form of caudal regression syndrome. Although the primary molecular defect resulting in sirenomelia remains unclear, two main pathogenic hypotheses namely the vascular steal hypothesis and the defective blastogenesis hypothesis are proposed.



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